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Article

FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.

Clinical genetics - 1 Dec 2002

Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez M-P

Abstract excerpt

We report a family showing autosomal-dominant segregation of upper- and lower-eyelid distichiasis (double row of eyelashes) in seven affected relatives over three generations, in addition to below-knee lymphedema of pubertal onset (lymphoedema proecox) in three. Two children had cleft palate in addition to distichiasis, but without the previously reported association with the Pierre-Robin sequence. Other...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 16
Share to Cleft Palate

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Forkhead Transcription Factors

Share to Frameshift Mutation

Share to Lymphedema

Share to Mutation, Missense

Source

Identifiers

PMID: 12485195
DOI: 10.1034/j.1399-0004.2002.620608.x

Genes

FOXC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate.PMID 12485195Read ↗

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